Fa Rapid Review - Classic Presentations

Front 1

Abdominal pain, ascites, hepatomegaly

Back 1

Budd-Chiari syndrome

(post-hepatic venous thrombosis)

Front 2

achilles tendon xanthoma

Back 2

familial hypercholesterolemia

(decreased LDL receptor signaling)

Front 3

Adrenal hemorrhage, hypotension, DIC

Back 3

Waterhouse-Friderichsen syndrome (meningococcemia)

Front 4

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints

Back 4

Marfan's syndrome (fibrillin defect)

Front 5

athlete with polycythemia

Back 5

secondary to EPO injection

Front 6

back pain, fever, night sweats, weight loss

Back 6

Pott's disease (vertebral tuberculosis)

Front 7

bilateral hilar lymphadenopathy, uveitis

Back 7

sarcoidosis (noncaseating granulomas)

Front 8

blue sclera

Back 8

osteogenesis imperfecta

Front 9

bluish line on gingiva

Back 9

Burton's line (lead poisoning)

Front 10

bone pain, bone enlargement, arthritis

Back 10

Paget's dz of bone (increased osteoblastic and osteoclastic activity)

Front 11

bounding pulses, diastolic heart murmur, *head bobbing*

Back 11

aortic regurgitation

Front 12

Raynaud's phenomenon in a young female

Back 12

SLE

Front 13

Pheo, optic glioma

Back 13

NF1

Front 14

McCune-Albright syndrome

(4)

Back 14

1. cafe-au-lait spots

2. polyostotic fibrous dysplasia (scarring of bones),

3. precocious puberty,

4. multiple endocrine abnormalities

(GNAS signaling mut.)

Front 15

Calf pseudohypertrophy

Back 15

muscular dystrophy

(most commonly Duchenne's;

X-linked recessive deletion of dystrophin gene(

Front 16

cherry red spot on macula

(3)

Back 16

Tay-Sachs (ganglioside accumulation)

or

Niemann-Pick (sphingomyelin accumulation)

or

CRAO

Front 17

Chest pain on exertion

Back 17

angina (stable: with moderate exertion; unstable: with minimal exertion)

Front 18

Chest pain, pericardial effusion/friction rub, persistent fever following MI

Back 18

Dressler's syndrome (AI-mediate post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

Front 19

Child uses arms to stand up from squat

Back 19

specific to DMD

Front 20

Child with fever later develops red rash on face that spreads to body

Back 20

"slapped cheeks"
(erythema infectiosum/5th dz: parvovirus B19)

Front 21

Swollen, hard, painful finger joints

Back 21

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

Front 22

chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria

Back 22

McArdle's Disease

(muscle glycogen phosphorylase deficiency)

Front 23

cold intolerance

Back 23

hypothyroidism

Front 24

conjugate lateral gaze palsy, horizontal diplopia

Back 24

internuclear opthalmoplegia

(damage to MLF;

MS if bilateral,

stroke if unilateral)

Front 25

continuous "machinery" heart murmur

Back 25

PDA

(open or maintain with Misoprostol)

Front 26

cutaneous/dermal edema due to CT disorder

Back 26

myxedema

(~~hypothyroidism, Grave's disease (pre-tibial))

Front 27

dark purple skin/mouth nodules

Back 27

Kaposi's sarcoma

(usually AIDS pts [esp. MSM])

Front 28

deep labored breathing =

Back 28

Kussmaul breathing

(DKA)

Front 29

Pellagra =

Back 29

Niacin/B3 deficiency

- dermatitis, dementia, diarrhea

Front 30

DCM, edema, alcoholism or malnutrition

Back 30

wet beriberi

(thiamine/B1 deficiency)

Front 31

dog or cat bite resulting in infection

Back 31

Pasteurella multocida

(cellulitis at injection site)

Front 32

dry eyes, dry mouth, arthritis

Back 32

Sjogren's syndrome

(AI destruction of exocrine glands)

Front 33

dysphagia (esophageal webs), glossitis, iron deficiency anemia

Back 33

Plummer-Vinson syndrome

(may progress to esophageal SCC)

Front 34

elastic skin, hypermobility of joints

Back 34

Ehlers-Danlos syndrome

(type III collagen defect)

Front 35

enlarged hard left supraclavicular node

Back 35

Virchow's node

(mets of diffuse gastric adenoCA )

Front 36

erythroderma, lymphadenopathy, HSM, atypical T cells

Back 36

Sezary syndrome
(cutaneous T cell lymphoma)

OR

mycosis fungoides

Front 37

facial muscle spasm upon tapping

Back 37

Chvostek's sign

(hypocalcemia)

Front 38

fat, female, forty, fertile

Back 38

cholelithiasis

(gallstones)

Front 39

fever, chills, headache, myalgia following treatment for syphilis

Back 39

Jarisch-Herxheimer rxn

(rapid lysis of spirochetes results in toxin release)

Front 40

fever, cough, conjunctivitis, coryza, diffuse rash

Back 40

measles

(morbillivirus)

Front 41

fever, night sweats, weight loss

Back 41

B-symps (staging) of Lymphoma

Front 42

fibrous plaques in soft tissue of penis

Back 42

Peyronie's disease

(CT disorder)

Front 43

gout, mental retardation, self-mutilating behavior in boy

Back 43

Lesch-Nyhan syndrome

(HGPRT deficiency, X-linked recessive)

Front 44

green-yellow rings around peripheral cornea

Back 44

Kayser-Fleischer rings

(copper accumulation from Wilson's dz)

Front 45

hamartomatous GI polyp, hyperpigmentation of mouth/feet/hands

Back 45

Peutz-Jeghers syndrome

(inherited, benign polyposis that can cause bowel obs, increased cancer risk, mainly GI)

Front 46

HSM, osteoporosis, neurologic symptoms

Back 46

Gaucher's dz

(glucocerebrosidase deficiency)

Front 47

herediatry nephritis, sensorineural hearing loss, cataracts

Back 47

Alport syndrome

(mut. in alpha chain of collagen IV, main component of BM's)

Front 48

hyperphagia, hypersexuality, hyperorality, hyperdocility

Back 48

Kluver-Bucy syndrome

(bilateral amygdala lesion)

Front 49

hyperreflexia, hypertonia, Babinskin sign present

Back 49

UMN damage

Front 50

hyporeflexia, hypotonia, atrophy, fasciculations

Back 50

LMN damage

Front 51

hypoxemia, polycythemia, hypercapnia

Back 51

"blue bloater"

(chronic bronchitis: hyperplasia of mucous cells)

Front 52

indurated ulcerated genital lesion

Back 52

nonpainful: chancre (primary syphilis, via Treponema pallidum)

painful: chancroid (Haemophilus ducreyi)

Front 53

infant with: cleft lip/palate, microcephaly, holoprosencephaly, polydactyly cutis aplasia

Back 53

Patau's syndrome (trisomy 13)

Front 54

infant with: failure to thrive, HSM, neurodegeneration

Back 54

Niemann-Pick Disease

(genetic sphingomyelinase deficiency)

Front 55

Infant with: hypoglycemia, failure to thrive, HSM

Back 55

Cori's Disease (debranching enzyme deficiency)

Front 56

Infant with: microcephaly, rocker-bottom feet, clenched hand, structural heart defect

Back 56

Edward's syndrome (trisomy 18)

Front 57

jaundice, palpable distended non-tender gallbladder

Back 57

Courvoisier's sign (distal obstruction of the biliary tree)

Front 58

large rash with bull's eye appearance

Back 58

erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)

Front 59

lucid interval after traumatic brain injury

Back 59

Epidural hematoma (middle meningeal artery rupture)

Front 60

male child, recurrent infections, no mature B cells

Back 60

Bruton's disease (X-linked agammaglobulinemia)

Front 61

mucosal bleeding and prolonged bleeding time

Back 61

Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of Gp IIb/IIIa)

Front 62

muffled heart sounds,distended neck veins,hypotension

Back 62

Beck's triad of cardiac tamponade

Front 63

multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth

Back 63

Gardner's syndrome (subtype of FAP)

Front 64

infantile HCM, exercise intolerance

Back 64

Pompe's dz

(lysosomal alpha-1,4-glucosidase deficiency)

Front 65

neonate with arm paralysis following difficult birth

Back 65

Erb-Duchenne palsy (superior trunk [C5-C6} brachial plexus injury: "waiter's tip"

Front 66

Sheehan's syndrome (pituitary infarction) =>

(3)

Back 66

no lactation postpartum,

absent menstruation,

cold intolerance

Front 67

apart from bilateral internuclear opthalmoplegia, Multiple Sclerosis ~~

(3)

Back 67

nystagmus,

intention tremor,

scanning speech

Front 68

oscillating fast breathing with no breathing

Back 68

cheyne-stokes respirations (central apnea in CHF or increased ICP)

Front 69

painful blue fingers/toes, hemolytic anemia

Back 69

cold-agglutinin disease (AI HmA caused by Mycoplasma pneumoniae, infectious mononucleosis)

(vs. vasospasms that cause Raynaud's)

Front 70

Painful, pale, cold fingers

Back 70

Raynaud's phenomenon (vasospasm in extremities)

Front 71

Painful, raised red lesions on pad of fingers/toes

Back 71

Osler's node (infective endocarditis, immune complex deposition)

Front 72

Painless erythematous lesions on palms and soles

Back 72

Janeway lesions (infective endocarditis, septic emobli/microabscesses)

Front 73

Painless jaundice

Back 73

cancer of the pancreatic head obstructing bile duct

Front 74

joint pain, abdominal pain, hematuria in child:

Back 74

HSP (IgA vasculitis affecting skin and kidneys)

+palpable purpura on buttocks/legs

Front 75

3 tumors of MEN1 (AD):

Back 75

pituitary,

PTH,

pancreatic

Front 76

periorbital and/or peripheral edema, proteinuria, hypoalbuminemia, hypercholesterolemia

Back 76

Nephrotic Syndrome

Front 77

pink complexion, dyspnea, hyperventilation

Back 77

"pink puffer" (emphysema: centriacinar [smoking], panacinar [a1AT])

Front 78

Fanconi's syndrome = PCT reabsorption defect; =>

(5)

Back 78

1. polyuria,

2. RTA type II,

3. growth failure,

4. electrolyte imbalances

5. hypoPO4 rickets

Front 79

positive anterior "drawer sign"

Back 79

anterior cruciate ligament injury

Front 80

6 P's of Lichen planus:

Back 80

pruritic, purple,

polygonal planar papules and plaques

Front 81

ptosis, miosis, anhidrosis

Back 81

Horner's Sydrome (sympathetic chain lesion)

Front 82

Argyll-Robertson pupil (neurosyphilis)

Back 82

pupil accommodates but doesn't react

Front 83

Guillain-Barre syndrome =

Back 83

acute AI inflammatory demyelinating polyneuropathy

=> rapidly progressive ascending weakness following GI/upper respiratory infection

Front 84

rash on palms and soles

Back 84

CARS

Front 85

Hyper-IgE syndrome (Job's syndrome) =>

(3)

Back 85

recurrent colds, unusual eczema, high serum IgE

- a N' chemotaxis abnormality

Front 86

Red "currant jelly" sputum in alcoholic or diabetic patients

Back 86

Klebsiella pneumoniae

Front 87

"currant jelly" stools

(2)

Back 87

1. acute mesenteric ischemia (adults)

2. intussusception (infants)

Front 88

Red, itchy, swollen rash of nipple/areola

Back 88

Paget disease of the breast (sign of underlying DCIS)

Front 89

Red urine in the morning, fragile RBCs

Back 89

Paroxysmal nocturnal hemoglobinuria

Front 90

VHL =>

(4)

Back 90

1. bilateral RCC

2. hemangioblastomas

3. angiomatosis

4. Pheo

Front 91

Resting tremor, rigidity, akinesia, postural instability

Back 91

Parkinson disease (nigrostriatal dopamine depletion)

Front 92

Retinal hemorrhages with pale centers

Back 92

Roth spots (bacterial endocarditis)

Front 93

Severe jaundice in neonate

Back 93

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

Front 94

Severe RLQ pain with palpation of LLQ

Back 94

Rovsing sign (acute appendicitis)

Front 95

Severe RLQ pain with rebound tenderness

Back 95

McBurney sign (acute appendicitis)

Front 96

Short stature,  incidence of tumors/leukemia, aplastic anemia

Back 96

Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML)

Front 97

Single palmar crease

Back 97

Down syndrome

Front 98

Situs inversus, chronic sinusitis, bronchiectasis, infertility

Back 98

Kartagener syndrome (dynein arm defect affecting cilia)

Front 99

Skin hyperpigmentation, hypotension, fatigue

Back 99

Addison disease (1° adrenocortical insufficiency causes ACTH and  α-MSH production)

Front 100

Slow, progressive muscle weakness in boys

Back 100

Becker muscular dystrophy (X-linked missense mutation in dystrophin; less severe than Duchenne)

Front 101

Small, irregular red spots on buccal/lingual mucosa with blue-white centers

Back 101

Koplik spots (measles; rubeola virus)

Front 102

Smooth, flat, moist, painless white lesions on genitals

Back 102

Condylomata lata (2° syphilis)

Front 103

Splinter hemorrhages in fingernails

Back 103

Bacterial endocarditis

Front 104

"Strawberry tongue" ~~

(3)

Back 104

1. scarlet fever

2. Kawasaki disease

3. TSS

Front 105

Turner syndrome (45,XO)

Back 105

streak ovaries, coarctatoin, horseshoe kidney,

short stature, webbed neck

- lymphedema, cystic hygroma at birth

Front 106

Sudden swollen/painful big toe joint, tophi

Back 106

Gout/podagra (hyperuricemia)

Front 107

Swollen gums, mucosal bleeding, poor wound healing, petechiae

Back 107

Scurvy (vitamin C deficiency: can't hydroxylate proline/lysine for collagen synthesis)

Front 108

Swollen, hard, painful finger joints

Back 108

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes])

Swollen, hard, painful finger joints

Front 109

Systolic ejection murmur (crescendo-decrescendo)

Back 109

Aortic valve stenosis

Front 110

MEN 2A (AD RET mutation)

Back 110

Medullary CA of thyroid,

PTH,

Pheo

Front 111

MEN 2B (AD RET mutation)

Back 111

Medullary CA of thyroid,

Pheo

mucosal neuromas

Front 112

+ Babinski sign (UMN lesion) =

Back 112

toes extend/fan out upon plantar scrape

- should curl in

Front 113

Unilateral facial drooping involving forehead

Back 113

Facial nerve palsy (LMN issue)

Front 114

Urethritis, conjunctivitis, arthritis in a male

Back 114

Reactive arthritis associated with HLA-B27

Front 115

Vascular birthmark (port-wine stain)

Back 115

Sturg-Weber check

Front 116

Mallory-Weiss syndrome (alcoholic and bulimic patients) ~~

Back 116

PAINFUL vomiting of blood

(just not life-threatening, like esophageal varices - until it progresses to Boerhave's)

Front 117

Whipple disease (Tropheryma whipplei) =>

(5)

Back 117

1. weight loss

2. diarrhea

3. arthritis

4. fever

5. adenopathy

Front 118

"Worst headache of my life"

Back 118

Subarachnoid hemorrhage